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Posts classified under: Breast

MyriadMyRisk  ⁄  Breast
9Jan2018

riskScore Validations Study

January 9, 2018

Myriad was excited to present the validation study for riskScoreTM at this year’s annual San Antonio Breast Cancer Symposium, which showed riskScore’s great clinical value.

As you know, riskScore is a clinically validated risk model that can help provide a personalized risk of breast cancer for eligible patients*. The model does this by assessing over 80 Single Nucleotide Polymorphisms (SNPs) known to be associated with breast cancer, combined with the Tyrer-Cuzick** model.

Summary of the validation study

1. The remaining lifetime and 5-year breast cancer risk estimates determined by riskScore were highly significant

2. riskScore added significant breast cancer risk discrimination independent of that captured by Tyrer-Cuzick for both remaining lifetime risk and 5-year risk


Resources to help you review and understand this data

1. Webinar with the lead author, Elisha Hughes, PhD, walking through the methodology and results in detail: https://vimeo.com/247363805

2. The poster presentation from the San Antonio Breast Cancer Symposium:https://myriad-web.s3.amazonaws.com/publications/45923666-SABCS%202017%20Hughes_Presented%20on%20December%206,%202017.pdf

3. Your local Myriad Account Executive and Regional Medical Specialist

4. Myriad’s Medical Services Department: 800-469-7423 ext. 3850 or emailinghelpmed@myriad.com

Click Here to Access Myriad Pro
 

 

*Eligible patients are women of solely European ancestry who have no history of breast disease or a known familial mutation in a gene associated with breast cancer

**Reference: Tyrer J, et al. A breast cancer prediction model incorporating familial and personal risk factors. Stat Med. 2004 23:1111-30.

9Jan2018

SABCS Post Conference

January 9, 2018
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We enjoyed seeing you at the 40th anniversary of the San Antonio Breast Cancer Symposium (SABCS) last week and hope you had the opportunity to connect with your colleagues and meet your objectives at this informative conference.

Myriad is proud to have been an exhibitor at this year’s SABCS and are excited to share some of our conference highlights with you.

Scientific Sessions

myRisk® Hereditary Cancer with riskScore™ Spotlight Presentation

Title: Development and Validation of a Combined Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel.

Presenter: Elisha Hughes, PhD, Myriad Genetic Laboratories

The highly anticipated validation study for riskScore™, recently added to Myriad’s myRisk® Hereditary Cancer panel, was featured in a spotlight session that attracted much excitement during the panel discussion following the release of the data.

  • riskScore is a clinically validated breast cancer risk model that predicts the patient’s risk of breast cancer using 80+ SNPs and the Tyrer-Cuzick model to provide a combined lifetime and 5-year risk score that accounts for clinical, familial and genetic variables.
  • The results of the validation data shows that riskScore was statistically significantly superior to Tyrer-Cuzick alone for both 5-year and lifetime risk of breast cancer.
  • riskScore represents a more comprehensive assessment of breast cancer risk for unaffected women of European descent who tested negative for hereditary breast cancer mutations.
  • Myriad is currently planning to publish this study in a peer-reviewed journal.

EndoPredict is a second-generation prognostic gene expression test for patients with breast cancer.  Myriad presented results of two important studies at SABCS related to EndoPredict that demonstrates the importance of this test in predicting disease recurrence and response to therapy.

EndoPredict Podium Presentation

Title: The EndoPredict (EP) score predicts residual cancer burden to neoadjuvant chemotherapy (NCT) and to neuroendocrine therapy (NET) in HR+/HER2- breast cancer patients from ABCSG34 (Austrian Breast and Colorectal Cancer Study Group Trial-34).

Presenter: Peter Dubsky, M.D., Medical University of Vienna, Austria and the Breast Center St. Anna Klinik, Lucerne.

  • This study was designed to show the predictive value of the EP 12-gene molecular score for tumor response to NCT and NET.
  • The results indicate that women with a high EP score responded better to NCT than those with a low score, while those with a low EP score responded better to NET.
    • The results show that 26.4 percent of those with a high score showed a good tumor response (RCB0/I) to neoadjuvant chemotherapy, while all patients with a low score showed only a poor tumor response (Table 1). In the “luminal A” group receiving neoendocrine therapy, 39 patients had a high EP score and 44 had a low EP score.  The results show that 27.3 percent of those with a low EndoPredict score and 7.7 percent with a high score achieved excellent tumor response (RCB0/I) to neoendocrine therapy (Table 1).

 

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EndoPredict Poster Presentation

Title: Prognostic performance of EndoPredict in invasive lobular carcinoma

Presenter: Ivana Sestak, Ms, PhD, Queen Mary, University of London | QMUL · Wolfson Institute of Preventive Medicine

  • This study evaluated the role of EP molecular-clinical score (EPclin) for the prediction of distant recurrence in women diagnosed with invasive lobular carcinoma (ILC) compared to those with invasive ductal carcinoma (IDC).
  • This results show that EP provided significant power for predicting distant recurrence in patients with both ILC and IDC.

EMBRACA General Session

Title: EMBRACA: A phase 3 trial comparing talazoparib, an oral PARP inhibitor, to physician’s choice of therapy in patients with advanced germline BRCA-mutation breast cancer.

Presenter: Jennifer K. Litton, M.D., MD Anderson Cancer Center

  • In the EMBRACA trial of patients with BRCA-mutated HER2-negative locally advanced or metastatic breast cancer, talazoparib showed a statistically significant and clinically meaningful improvement in progression-free survival over chemotherapy (HR=0.54, P<0.0001, 8.6 months in the talazoparib arm vs. 5.6 months in the chemotherapy arm).
  • Myriad’s BRACAnalysis CDx® test was used to identify patients with germlineBRCA1/2 mutations who were eligible for the EMBRACA trial.
  • This study demonstrated the efficacy of another PARP inhibitor, talazoparib, for patients with locally advanced or metastatic breast cancer.
  • Pending FDA review, these data may represent another treatment option for patients with advanced breast cancer and further emphasize the importance of knowing BRCA status in all patients with HER2-negative metastatic breast cancer.

For details on Myriad’s scientific presentations at SABCS, please visit: http://myriadpro.com/publications/

18Apr2016

NCCN Hereditary Breast and Ovarian Cancer Guidelines: 2016 Update

April 18, 2016

Background: The National Comprehensive Cancer Network® (NCCN) is an alliance of leading cancer centers devoted to patient care, research and education.  NCCN Practice Guidelines are the widely recognized and frequently updated, evidence-based recommendations developed by expert panels within these institutions. NCCN recently released the latest version of their hereditary breast and ovarian cancer practice guideline (Genetic/Familial High Risk Assessment: Breast and Ovarian. Version 2.2016).1

Multi-gene Panels: Since 2014, NCCN guidelines have recognized the impact that multi-gene panel testing has in changing the clinical approach to testing at-risk individuals. NCCN acknowledges that:

  • Panel testing may be a cost effective and efficient option, especially for individuals who have personal/family histories that are suspicious for more than one hereditary cancer syndrome
  • Panel testing may be appropriate for patients who tested negative on single syndrome testing and have an unexplained personal/ family history of cancer
  • Given the fact that commercially available tests differ in many ways (including genes analyzed and variant classification), clinician diligence is necessary in laboratory and gene panel selection

Medical Management: In 2016, NCCN updated medical management guidelines for several genes and notably, they included new guidelines for several moderate risk genes included on the Myriad myRisk® Hereditary Cancer panel:

  • NCCN still recommends risk-reducing salpingo-oophorectomy between the ages of 35-40 and upon completion of childbirth for BRCA1/BRCA2 However, the current version states that it is reasonable for BRCA2 carriers who have undergone bilateral mastectomy to delay oophorectomy until 40-45 years, since the average age of onset of ovarian cancer in BRCA2 mutation carriers is 8-10 years later than in the BRCA1 population.
  • Discuss the option of risk-reducing mastectomy for PALB2 mutation carriers.
  • Recommend/consider risk-reducing salpingo-oophorectomy (RRSO) for BRIP1,RAD51C, and RAD51D mutation carriers.

Below are the most up-to-date cancer risks associated with these genes. Visit themyRisk® Gene Tables for a full list of gene-related cancer risks and clinical references.

GENES

CANCER RISK

Ovarian

Breast

Pancreatic

General Population 1.1%** 10.2%** 1%**
BRCA1 39-63%* 46-87%* Elevated**
BRCA2 16.5-27%* 43-84%* 7% or greater if there is family history of pancreatic cancer**
PALB2 __ 17 – 58%* Elevated**
BRIP1 5.8%** 10 – 20%, or higher** __
RAD51C 6.7%** __ __
RAD51D 14.8%** __ __

Bottom Line: The field of genetics and management guidelines for mutation carriers are continually evolving. NCCN guidelines are updated annually and in 2016, they have provided additional guidance for genes included on the Myriad myRisk® Hereditary Cancer panel. Myriad is committed to helping you make tailored management recommendations for your patients based on their genetic status and current medical guidelines; these updates will be reflected in all applicable newly reported myRisk®Medical Management tools.

Clinical tools for patient risk identification and medical management:

  • Family History Tool
  • Hereditary Cancer Quiz
  • Gene Tables
  • Myriad myRisk® mobile app

 

References:

  1. National Comprehensive Cancer Network. “NCCN Clinical Practice Guidelines in Oncology®Genetic/Familial High-Risk Assessment: Breast and Ovarian” Version 2.2016. Available at:http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf – Accessed 3/29/2016
23Mar2016

New data on multi-gene panel testing from ACMG 2016

March 23, 2016

The 2016 ACMG Annual Clinical Genetics Meeting took place March9-11th in Tampa, Florida with over 2,200 genetic professionals in attendance. Several of Myriad’s scientists were on hand to present new data on hereditary cancer multi-gene panel testing.

You can read all of our posters online at the Myriad publications page.

Reclassification of Uncertain Variants Identified in High and Moderate Cancer Risk Genes Using History Weighting Analysis

Presenter: Karla Bowles, PhD, FACMG

Variants of uncertain significance (VUS) are an expected outcome of genetic testing, but can still represent a clinical challenge for healthcare providers and patients, especially considering the increased prevalence of VUS results when larger multi-gene panels are utilized.

To address this challenge, Myriad has previously developed and implemented a statistical family History Weighting Algorithm (HWA), also known as Pheno®, which accurately reclassifies VUS as pathogenic or benign.1

Historically, Pheno has been used to upgrade or downgrade variants in high-penetrance genes, including BRCA1, BRCA2, MLH1, MSH2, and MSH6. This study describes the development and validation of Pheno for application in three additional genes in which mutations are commonly found, ATM, CHEK2, and PALB2. Amongst all pathogenic variants (PVs) identified by myRisk, PVs in ATM, CHEK2 and PALB2 are second in number only toBRCA1 and BRCA2.2

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This study demonstrates Pheno model’s ability to accurately downgrade variants of uncertain significance in these genes to a benign or likely benign classification, with negative predictive values of > 0.998 for ATM, CHEK2 and PALB2.

Detailed Review of Four Patients Affected with Cancer that were Previously Unaffected at the Time of Single Syndrome Testing and Subsequently had Pathogenic Variants Identified by a 25-Gene Panel

Presenter: Allie Anguiano, MS, CGC

This study assesses the utility of re-testing individuals who previously underwent single-syndrome testing (i.e., HBOC, Lynch, or FAP testing) by investigating individuals who were unaffected at the time of their negative single-syndrome testing, but later developed cancer.Among the 106 individuals who met the selection criteria, 8 (7.5%) were identified as carrying a pathogenic variant upon re-testing with Myriad myRisk®. The four specific cases highlighted in the study involved individuals who went on to develop breast cancer after testing negative for a pathogenic variant in BRCA1 or BRCA2.

This shows that utilizing a single-syndrome testing approach may miss pathogenic variants in other cancer susceptibility genes that may later result in the development of an avoidable cancer. Testing with a comprehensive panel such as myRisk increases the number of patients who are appropriate for screening and other preventative measures.

Read more on

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